PICALM
Summary: This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:603025 Ensembl IDEnsembl:ENSG00000073921 HGNC IDHGNC:HGNC:15514 PHARMGKB IDPA33287 Map Location11q14.2 | |||||
GO terms in PICALM
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0006898 | receptor-mediated endocytosis |
| BP | ISS | GO:0006898 | receptor-mediated endocytosis |
| BP | IEA | GO:0007409 | axonogenesis |
| BP | ISS | GO:0007611 | learning or memory |
| BP | IMP | GO:0008283 | cell proliferation |
| BP | IMP | GO:0010629 | negative regulation of gene expression |
Gene expression in normal tissue: PICALM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PICALM
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2001 | miR-targeted genes in adipocytes - TarBase |
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2006 | miR-targeted genes in squamous cell - TarBase |
| biocarta | ndkdynaminpathway | endocytotic role of ndk phosphins and dynamin |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PICALM
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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